HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • International Serious Adverse Events Consortium - (Autor:in)
  • Medizinische Klinik und Poliklinik I
  • Professur für Mukosale Immunologie
  • University of Exeter
  • Royal Devon & Exeter NHS Foundation Trust
  • Oxford University Hospitals NHS Foundation Trust
  • Monash University
  • King's College Hospital NHS Foundation Trust
  • Royal Adelaide Hospital
  • Azienda Ospedaliera Careggi
  • Flinders University
  • St. Vincent's Hospital Sydney
  • University Hospitals of Derby and Burton NHS Foundation Trust
  • Liverpool Heart and Chest Hospital NHS Foundation Trust
  • University Hospitals Bristol and Weston NHS Foundation Trust
  • University Hospital Southampton NHS Foundation Trust
  • Karolinska Institutet
  • University of Alberta
  • University of Queensland
  • Internal Medicine and Gastroenterology Unit
  • Somerset NHS Foundation Trust
  • Universitetssjukhuset Örebro
  • St. Mark's Hospital and Academic Institute
  • Guy's and St Thomas' NHS Foundation Trust
  • North Western Health Board Sligo General Hospital
  • Rambam Medical Center
  • University of Western Australia
  • Cambridge University Hospitals NHS Foundation Trust
  • Shaare Zedek Medical Center
  • Barts Health NHS Trust
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Chelsea and Westminster Hospital NHS Foundation Trust
  • Basildon Hospital
  • Imperial College Healthcare NHS Trust
  • Queensland Health
  • NHS Greater Glasgow and Clyde
  • Lewisham and Greenwich NHS Trust
  • Mount Sinai Hospital (Toronto)
  • IRCCS Ente Ospedaliero specializzato in gastroenterologia Saverio De Bellis - Castellana Grotte (BA)
  • Norfolk and Norwich University Hospitals NHS Foundation Trust
  • University of Ioannina
  • Queen Mary University of London
  • Universitätsklinikum Schleswig-Holstein Campus Lübeck

Abstract

Pancreatitis occurs in approximately 4% of patients treated with the thiopurines azathioprine or mercaptopurine. Its development is unpredictable and almost always leads to drug withdrawal. We identified patients with inflammatory bowel disease (IBD) who had developed pancreatitis within 3 months of starting these drugs from 168 sites around the world. After detailed case adjudication, we performed a genome-wide association study on 172 cases and 2,035 controls with IBD. We identified strong evidence of association within the class II HLA region, with the most significant association identified at rs2647087 (odds ratio 2.59, 95% confidence interval 2.07-3.26, P = 2 × 10(-16)). We replicated these findings in an independent set of 78 cases and 472 controls with IBD matched for drug exposure. Fine mapping of the HLA region identified association with the HLA-DQA1*02:01-HLA-DRB1*07:01 haplotype. Patients heterozygous at rs2647087 have a 9% risk of developing pancreatitis after administration of a thiopurine, whereas homozygotes have a 17% risk.

Details

OriginalspracheEnglisch
Seiten (von - bis)1131-4
Seitenumfang4
FachzeitschriftNature genetics
Jahrgang46
Ausgabenummer10
PublikationsstatusVeröffentlicht - Okt. 2014
Peer-Review-StatusJa

Externe IDs

PubMedCentral PMC6379053
Scopus 84922070460

Schlagworte

Schlagwörter

  • Azathioprine/adverse effects, Gene Frequency, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study, Genotype, HLA-DQ alpha-Chains/chemistry, HLA-DRB1 Chains/chemistry, Haplotypes, Humans, Immunosuppressive Agents/adverse effects, Inflammatory Bowel Diseases/drug therapy, Mercaptopurine/adverse effects, Models, Molecular, Molecular Structure, Pancreatitis/chemically induced, Polymorphism, Single Nucleotide, Protein Binding, Protein Structure, Tertiary, Risk Factors